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Fusion gene ID: 21109 |
FusionGeneSummary for MASP2_EXOSC10 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MASP2_EXOSC10 | Fusion gene ID: 21109 | Hgene | Tgene | Gene symbol | MASP2 | EXOSC10 | Gene ID | 10747 | 5394 |
| Gene name | mannan binding lectin serine peptidase 2 | exosome component 10 | |
| Synonyms | MAP19|MASP-2|MASP1P1|sMAP | PM-Scl|PM/Scl-100|PMSCL|PMSCL2|RRP6|Rrp6p|p2|p3|p4 | |
| Cytomap | 1p36.22 | 1p36.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mannan-binding lectin serine protease 2MBL-associated plasma protein of 19 kDMBL-associated serine protease 2mannan-binding lectin serine peptidase 1 pseudogene 1mannan-binding lectin serine protease 1 pseudogene 1mannose-binding protein-associated s | exosome component 10P100 polymyositis-scleroderma overlap syndrome-associated autoantigenautoantigen PM-SCLpolymyositis/scleroderma autoantigen 100 kDapolymyositis/scleroderma autoantigen 2 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | O00187 | Q01780 | |
| Ensembl transtripts involved in fusion gene | ENST00000400897, ENST00000400898, | ENST00000304457, ENST00000376936, ENST00000544779, ENST00000485606, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 7 X 7 X 4=196 |
| # samples | 1 | 9 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(9/196*10)=-1.12285674778553 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MASP2 [Title/Abstract] AND EXOSC10 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | MASP2 | GO:0001867 | complement activation, lectin pathway | 9087411|17182967 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | LIHC | TCGA-FV-A495-01A | MASP2 | chr1 | 11090233 | - | EXOSC10 | chr1 | 11137708 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000400897 | ENST00000304457 | MASP2 | chr1 | 11090233 | - | EXOSC10 | chr1 | 11137708 | - |
| Frame-shift | ENST00000400897 | ENST00000376936 | MASP2 | chr1 | 11090233 | - | EXOSC10 | chr1 | 11137708 | - |
| Frame-shift | ENST00000400897 | ENST00000544779 | MASP2 | chr1 | 11090233 | - | EXOSC10 | chr1 | 11137708 | - |
| 5CDS-intron | ENST00000400897 | ENST00000485606 | MASP2 | chr1 | 11090233 | - | EXOSC10 | chr1 | 11137708 | - |
| intron-3CDS | ENST00000400898 | ENST00000304457 | MASP2 | chr1 | 11090233 | - | EXOSC10 | chr1 | 11137708 | - |
| intron-3CDS | ENST00000400898 | ENST00000376936 | MASP2 | chr1 | 11090233 | - | EXOSC10 | chr1 | 11137708 | - |
| intron-3CDS | ENST00000400898 | ENST00000544779 | MASP2 | chr1 | 11090233 | - | EXOSC10 | chr1 | 11137708 | - |
| intron-intron | ENST00000400898 | ENST00000485606 | MASP2 | chr1 | 11090233 | - | EXOSC10 | chr1 | 11137708 | - |
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FusionProtFeatures for MASP2_EXOSC10 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MASP2 | EXOSC10 |
| Putative catalytic component of the RNA exosome complexwhich has 3'->5' exoribonuclease activity and participates in amultitude of cellular RNA processing and degradation events. Inthe nucleus, the RNA exosome complex is involved in propermaturation of stable RNA species such as rRNA, snRNA and snoRNA,in the elimination of RNA processing by-products and non-coding'pervasive' transcripts, such as antisense RNA species andpromoter-upstream transcripts (PROMPTs), and of mRNAs withprocessing defects, thereby limiting or excluding their export tothe cytoplasm. The RNA exosome may be involved in Ig class switchrecombination (CSR) and/or Ig variable region somatichypermutation (SHM) by targeting AICDA deamination activity totranscribed dsDNA substrates. In the cytoplasm, the RNA exosomecomplex is involved in general mRNA turnover and specificallydegrades inherently unstable mRNAs containing AU-rich elements(AREs) within their 3' untranslated regions, and in RNAsurveillance pathways, preventing translation of aberrant mRNAs.It seems to be involved in degradation of histone mRNA. EXOSC10has 3'-5' exonuclease activity (By similarity). EXOSC10 isrequired for nucleolar localization of C1D and probably mediatesthe association of MTREX, C1D and MPP6 wth the RNA exosomeinvolved in the maturation of 5.8S rRNA. {ECO:0000250,ECO:0000269|PubMed:14527413, ECO:0000269|PubMed:16455498,ECO:0000269|PubMed:17412707, ECO:0000269|PubMed:17545563,ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:19056938,ECO:0000269|PubMed:20368444, ECO:0000269|PubMed:20699273}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for MASP2_EXOSC10 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MASP2_EXOSC10 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| MASP2 | MBL2, MASP1, SERPING1, FCN2 | EXOSC10 | MPP6, UPF1, UPF2, UPF3A, HDGF, SIRT7, CUL3, CAND1, EXOSC4, DIS3, DIS3L, EXOSC3, EXOSC5, EXOSC9, ESR1, AICDA, EXOSC6, EXOSC7, EXOSC8, SKIV2L, CIB1, TOX4, SCRIB, PTGES2, RUVBL2, NOMO1, NOMO2, SSRP1, USP21, B9D1, FOXRED1, CHPF, IMMT, RPE, FERMT3, LCAT, ALDH1B1, DXO, XRN2, LSM2, LSM8, XRN1, EIF3M, TARDBP, USP16, RPA3, RPA2, RPA1, MOV10, NXF1, OBSL1, SUMO2, EXOSC1, EXOSC2, MPHOSPH6, HNRNPR, SKIV2L2, SSB, SUPT6H, UTP14A, NTRK1, KRAS, IFI16, HNRNPU, NPM1, RBM7, SNW1, CDC5L, NANOG, POU5F1, C1D, ZC3H18, RPL18A, NCL, FOXA1, BRCA1, MTF1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MASP2_EXOSC10 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MASP2_EXOSC10 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MASP2 | C0009324 | Ulcerative Colitis | 1 | CTD_human |
| Hgene | MASP2 | C0014742 | Erythema Multiforme | 1 | CTD_human |
| Hgene | MASP2 | C0020951 | Immune Complex Diseases | 1 | CTD_human |
| Hgene | MASP2 | C0021368 | Inflammation | 1 | CTD_human |
| Hgene | MASP2 | C0155862 | Streptococcal pneumonia | 1 | CTD_human |
| Hgene | MASP2 | C3151085 | MASP2 Deficiency | 1 | CTD_human;ORPHANET;UNIPROT |
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